ALK F1245V

CI-VAR-00001076Explore in graph →NP_004295.2:p.Phe1245ValNM_004304.4:c.3733T>GClinVar 65671 CIViC 1295 rs281864720

Curated evidence

Evidence by cancer (2 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–2 of 2 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Neuroblastoma2
ALK F1245V	(diagnostic)	Diagnostic	B	Supports Positive	3	rejected	EID3048 From a total of 90 patients -54 boys and 36 girls- one case presented with F1245V mutation in primary neuroblastoma tumor, specimens obtained during surgery or biopsy were subjected to copy number sta… (full text at CIViC) PMID 22085494 · Bagci et al., 2012 · Open in CIViC	civic
ALK F1245V	Entrectinib	Predictive	C	Supports Sensitivity Response	3	accepted	EID2987 Clinical trial of entrectinib in patients with ALK/ROS/TRK altered tumors. One patient with an ALK F1245V-mutant neuroblastoma achieved a durable, confirmed partial response (PR) lasting 8.3 months. T… (full text at CIViC) PMID 28183697 · Drilon et al., 2017 · Open in CIViC	civic

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
65671	Likely pathogenic	criteria provided, single submitter	1	Neuroblastoma, susceptibility to, 3; Neuroblastoma; ALK-related disorder	germline/somatic	3	Apr 04, 2023	clinvar